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Selected Publications

Reproductive Physiology & Pathophysiology Group

  1. Choi JH, Balasubramanian R, Lee PH, Shaw ND, Hall JE, Plummer L, Buck CL, Kottler ML, Jarzabek K, Wolcznynski S, Quinton R, Latronico AC, Dode C, Ogata T, Kim HG, Layman LC, Gusella JF, Crowley WF Jr. 2015. Expanding the spectrum of founder mutations causing isolated gonadotropin-releasing hormone deficiency. J Clin Endocrinol Metab 100(10):E1378-1385 [Abstract Choi JH, Balasubramanian R, Lee PH, Shaw ND, Hall JE, Plummer L, Buck CL, Kottler ML, Jarzabek K, Wolcznynski S, Quinton R, Latronico AC, Dode C, Ogata T, Kim HG, Layman LC, Gusella JF, Crowley WF Jr. 2015. Expanding the spectrum of founder mutations causing isolated gonadotropin-releasing hormone deficiency. J Clin Endocrinol Metab 100(10):E1378-1385]
  2. Hall JE. 2015. Endocrinology of the Menopause. Endocrinol Metab Clin North Am 44(3):485-496. [Abstract Hall JE. 2015. Endocrinology of the Menopause. Endocrinol Metab Clin North Am 44(3):485-496.]
  3. Shaw ND, Srouji SS, Welt CK, Cox KH, Fox JH, Adams JA, Sluss PM, Hall JE. 2015. Compensatory increase in ovarian aromatase in older regularly cycling women. J Clin Endocrinol Metab 100(9):3539-3547. [Abstract Shaw ND, Srouji SS, Welt CK, Cox KH, Fox JH, Adams JA, Sluss PM, Hall JE. 2015. Compensatory increase in ovarian aromatase in older regularly cycling women. J Clin Endocrinol Metab 100(9):3539-3547.]
  4. Shaw ND, Butler J, Nemati S, Kangarloo T, Ghassemi M, Malhotra A, Hall JE. 2015. Accumulated deep sleep is a powerful predictor of LH pulse onset in pubertal children. J Clin Endocrinol Metab 100(3):1062-1070. [Abstract Shaw ND, Butler J, Nemati S, Kangarloo T, Ghassemi M, Malhotra A, Hall JE. 2015. Accumulated deep sleep is a powerful predictor of LH pulse onset in pubertal children. J Clin Endocrinol Metab 100(3):1062-1070.]
  5. Balasubramanian R, Cohen DA, Klerman EB, Pignatelli D, Hall JE, Dwyer AA, Czeisler CA, Pitteloud N, Crowley WF Jr. 2014. Absence of central pacemaker activity in humans with loss of function mutations in prokineticin 2. J Clin Endocrinol Metab 99(3):E561-566. [Abstract Balasubramanian R, Cohen DA, Klerman EB, Pignatelli D, Hall JE, Dwyer AA, Czeisler CA, Pitteloud N, Crowley WF Jr. 2014. Absence of central pacemaker activity in humans with loss of function mutations in prokineticin 2. J Clin Endocrinol Metab 99(3):E561-566.]
  6. Shaw N, Srouji S, Welt C, Cox K, Fox J, Adams J, Sluss P, Hall J. 2014. Evidence that increased ovarian aromatase activity and expression account for higher estradiol levels in African American compared with Caucasian women. J Clin Encdocrinol Metab 99(4):1384-1392. [Abstract Shaw N, Srouji S, Welt C, Cox K, Fox J, Adams J, Sluss P, Hall J. 2014. Evidence that increased ovarian aromatase activity and expression account for higher estradiol levels in African American compared with Caucasian women. J Clin Encdocrinol Metab 99(4):1384-1392.]
  7. Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O’Rourke J, Kirby A, Laage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB. 2013. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med 368(21):1992-2003. [Abstract Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O’Rourke J, Kirby A, Laage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB. 2013. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med 368(21):1992-2003.]
  8. Joffe H, Crawford S, Economou N, Kim S, Regan S, Hall JE,* White DP.* 2013. A gonadotropin-releasing hormone agonist model demonstrates that nocturnal hot flashes interrupt objective sleep. Sleep 36 (12):1977-1985. *contributed equally as senior author [Abstract Joffe H, Crawford S, Economou N, Kim S, Regan S, Hall JE,* White DP.* 2013. A gonadotropin-releasing hormone agonist model demonstrates that nocturnal hot flashes interrupt objective sleep. Sleep 36 (12):1977-1985. *contributed equally as senior author]
  9. Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivo T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, van Vliet G, Chanoine J-P, Rubenstein J, Mohammadi M, Tsi P-S, Sidis Y, Lage K, Pitteloud N. 2013. Mutations in FGR17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genetics 92:725-743. [Abstract Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivo T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, van Vliet G, Chanoine J-P, Rubenstein J, Mohammadi M, Tsi P-S, Sidis Y, Lage K, Pitteloud N. 2013. Mutations in FGR17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genetics 92:725-743.]
  10. Costa-Barbosa FA, Balasubramanian R, Keefe KW, Shaw ND, Al-Tassan N, Plummer L, Dwyer AA, Buck CL, Choi J-H, Seminara SB, Quinton R, Monies D, Meyer B, Hall JE, Pitteloud N, Crowley WF Jr. 2013. Prioritizing genetic testing in patients with Kallmann Syndrome using clinical phenotypes. J Clin Endocrinol Metab 98(5):E943-953. [Abstract Costa-Barbosa FA, Balasubramanian R, Keefe KW, Shaw ND, Al-Tassan N, Plummer L, Dwyer AA, Buck CL, Choi J-H, Seminara SB, Quinton R, Monies D, Meyer B, Hall JE, Pitteloud N, Crowley WF Jr. 2013. Prioritizing genetic testing in patients with Kallmann Syndrome using clinical phenotypes. J Clin Endocrinol Metab 98(5):E943-953.]
  11. Joffe H, White DP, Crawford SL, McCurnin KE, Economou N, Connors S, Hall JE. 2013. Adverse effects of induced hot flashes on objectively recorded and subjectively reported sleep: results of a gonadotropin-releasing hormone agonist experimental protocol. Menopause 20(9):905-914. [Abstract Joffe H, White DP, Crawford SL, McCurnin KE, Economou N, Connors S, Hall JE. 2013. Adverse effects of induced hot flashes on objectively recorded and subjectively reported sleep: results of a gonadotropin-releasing hormone agonist experimental protocol. Menopause 20(9):905-914.]
  12. Abel BS, Shaw ND, Brown JM, Adams JM, Alati T, Martin KA, Pitteloud N, Seminara SB, Plummer L, Pignatelli D, Crowley WF Jr, Welt CK, Hall JE. 2013. Responsiveness to a physiologic regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism. J Clin Endocrinol Metab 98(2):E206-216. [Abstract Abel BS, Shaw ND, Brown JM, Adams JM, Alati T, Martin KA, Pitteloud N, Seminara SB, Plummer L, Pignatelli D, Crowley WF Jr, Welt CK, Hall JE. 2013. Responsiveness to a physiologic regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism. J Clin Endocrinol Metab 98(2):E206-216.]
  13. Shaw ND, Butler JP, McKinney SM, Nelson SA, Ellenbogen JM, Hall JE. 2012. Insights into puberty: the relationship between sleep stages and pulsatile LH secretion. J Clin Endocrinol Metab. 97(11): E2055-2062. [Abstract Shaw ND, Butler JP, McKinney SM, Nelson SA, Ellenbogen JM, Hall JE. 2012. Insights into puberty: the relationship between sleep stages and pulsatile LH secretion. J Clin Endocrinol Metab. 97(11): E2055-2062.]
  14. Gianetti E, Hall JE, Au MG, Kaiser UB, Quinton R, Stewart JA, Pitteloud N, Rericq V,  Merino PM, Levitsky LL, Izatt L, Lang-Muritano M, Fujimoto VY, Dluhy RG, Chase ML, Crowley WF Jr, Plummer L, Seminara SB. 2012. When genetic load does not correlate with genotypic spectrum: lessons from the GnRH receptor (GNRHR). J Clin Endocrinol Metab 97(9):E1798-1807. [Abstract Gianetti E, Hall JE, Au MG, Kaiser UB, Quinton R, Stewart JA, Pitteloud N, Rericq V,  Merino PM, Levitsky LL, Izatt L, Lang-Muritano M, Fujimoto VY, Dluhy RG, Chase ML, Crowley WF Jr, Plummer L, Seminara SB. 2012. When genetic load does not correlate with genotypic spectrum: lessons from the GnRH receptor (GNRHR). J Clin Endocrinol Metab 97(9):E1798-1807.]
  15. Joffe H, Deckersbach T, Lin NU, Makris N, Skaar TC, Rauch SL, Dougherty DD, Hall JE. 2012. Metabolic activity in the insular cortex and hypothalamus predicts hot flashes: an FDG-PET study. J Clin Endocrinol Metab 97(9):3207-3215. [Abstract Joffe H, Deckersbach T, Lin NU, Makris N, Skaar TC, Rauch SL, Dougherty DD, Hall JE. 2012. Metabolic activity in the insular cortex and hypothalamus predicts hot flashes: an FDG-PET study. J Clin Endocrinol Metab 97(9):3207-3215.]
  16. Shaw ND, Klingman KM, Srouji SS, Histed SN, Hall JE. 2012. Gonadotropin responses to estrogen negative and positive feedback are identical in African-American and Caucasian women. J Clin Endocrinol Metab 97(1):E106-109. [Abstract Shaw ND, Klingman KM, Srouji SS, Histed SN, Hall JE. 2012. Gonadotropin responses to estrogen negative and positive feedback are identical in African-American and Caucasian women. J Clin Endocrinol Metab 97(1):E106-109.]
  17. Chan YM, Broder-Fingert S, Paraschos S, Lapatto R, Au M, Hughes V, Bianco SD, Min L, Plummer L, Cerrato F, De Guillebon A, Wu IH, Wahab F, Dwyer A, Kirsch S, Quinton R, Cheetham T, Ozata M, Ten S, Chanoine JP, Pitteloud N, Crowley WF Jr, Martin KA, Schiffmann R, Van der Kamp HJ, Nader S, Hall JE, Kaiser UB, Seminara SB. 2011. GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1. J Clin Endocrinol Metab 96(11):E1771-1781. [Abstract Chan YM, Broder-Fingert S, Paraschos S, Lapatto R, Au M, Hughes V, Bianco SD, Min L, Plummer L, Cerrato F, De Guillebon A, Wu IH, Wahab F, Dwyer A, Kirsch S, Quinton R, Cheetham T, Ozata M, Ten S, Chanoine JP, Pitteloud N, Crowley WF Jr, Martin KA, Schiffmann R, Van der Kamp HJ, Nader S, Hall JE, Kaiser UB, Seminara SB. 2011. GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1. J Clin Endocrinol Metab 96(11):E1771-1781.]
  18. Marsh EE, Shaw ND, Klingman KM, Tiamfook-Morgan TO, Yialamas MA, Sluss PM, Hall JE. 2011. Estrogen levels are higher across the menstrual cycle in African American women compared to Caucasian women. J Clin Endocrinol Metab  96(10):3199-3206. [Abstract Marsh EE, Shaw ND, Klingman KM, Tiamfook-Morgan TO, Yialamas MA, Sluss PM, Hall JE. 2011. Estrogen levels are higher across the menstrual cycle in African American women compared to Caucasian women. J Clin Endocrinol Metab  96(10):3199-3206.]
  19. Tornberg J, Sykiotis GP, Keefe K, Plummer L, Hoang X, Hall JE, Quinton R, Seminara SB, Hughes V, Van Vliet G, Van Uum S, Crowley WF, Habuchi H, Kimata K, Pitteloud N, Bulow HE. 2011. Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci USA 108(28):11524-11529. [Abstract Tornberg J, Sykiotis GP, Keefe K, Plummer L, Hoang X, Hall JE, Quinton R, Seminara SB, Hughes V, Van Vliet G, Van Uum S, Crowley WF, Habuchi H, Kimata K, Pitteloud N, Bulow HE. 2011. Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci USA 108(28):11524-11529.]
  20. Shaw ND*, Gill S*, Lavoie HB, Marsh EE, Hall JE. 2011. Persistence of sleep-associated decrease in GnRH pulse frequency in the absence of gonadal steroids. 2011. J Clin Endocrinol Metab 96(8):2590-2595. *contributed equally as first author [Abstract Shaw ND*, Gill S*, Lavoie HB, Marsh EE, Hall JE. 2011. Persistence of sleep-associated decrease in GnRH pulse frequency in the absence of gonadal steroids. 2011. J Clin Endocrinol Metab 96(8):2590-2595. *contributed equally as first author]
  21. Shaw ND, Srouji SS, Histed SN, Hall JE. 2011. Differential effects of aging on estrogen negative and positive feedback. Am J Physiol Endocrinol Metab 301(2):E351-355. [Abstract Shaw ND, Srouji SS, Histed SN, Hall JE. 2011. Differential effects of aging on estrogen negative and positive feedback. Am J Physiol Endocrinol Metab 301(2):E351-355.]
  22. Joffe H, Petrillo L, Koukopoulos A, Viguera AC, Hirschberg A, Nonacs R, Somley B, Pasciullo E, White DP, Hall JE*, Cohen LS.* 2011. Increased estradiol and improved sleep, but not hot flashes, predict enhanced mood during the menopausal transition. J Clin Endocrinol Metab 96(7):E1044-1054. *contributed equally as senior author [Abstract Joffe H, Petrillo L, Koukopoulos A, Viguera AC, Hirschberg A, Nonacs R, Somley B, Pasciullo E, White DP, Hall JE*, Cohen LS.* 2011. Increased estradiol and improved sleep, but not hot flashes, predict enhanced mood during the menopausal transition. J Clin Endocrinol Metab 96(7):E1044-1054. *contributed equally as senior author]
  23. Klingman KM, Marsh EE, Klerman EB, Anderson EJ, Hall JE. 2011. Absence of circadian rhythms of gonadotropin secretion in women. J Clin Endocrinol Metab 96(5):1456-1461. [Abstract Klingman KM, Marsh EE, Klerman EB, Anderson EJ, Hall JE. 2011. Absence of circadian rhythms of gonadotropin secretion in women. J Clin Endocrinol Metab 96(5):1456-1461.]
  24. Caronia LM, Martin, C, Welt  CK, Sykiotis GP, Quinton R,  Thambundit A, Avbelj M, Dhruvakumar S, Plummer P, Hughes VA, Seminara SB, Boepple PA, Sidis Y, Crowley WF, Martin KA, Hall JE, Pitteloud N. 2011. A genetic basis for functional hypothalamic amenorrhea. N Engl J Med 364(3):215-225. [Abstract Caronia LM, Martin, C, Welt  CK, Sykiotis GP, Quinton R,  Thambundit A, Avbelj M, Dhruvakumar S, Plummer P, Hughes VA, Seminara SB, Boepple PA, Sidis Y, Crowley WF, Martin KA, Hall JE, Pitteloud N. 2011. A genetic basis for functional hypothalamic amenorrhea. N Engl J Med 364(3):215-225.]
  25. Shaw ND, Seminara SB, Welt CK, Au MG, Plummer LC, Hughes VA, Dwyer AA, Martin KA, Quinton R, Mericq V, Merino PM, Gusella JF, Crowley WF Jr, Pitteloud N, Hall JE. 2011. Expanding the phenotype and genotype of female GnRH deficiency. J Clin Endocrinol Metab 96(3):E566-76. [Abstract Shaw ND, Seminara SB, Welt CK, Au MG, Plummer LC, Hughes VA, Dwyer AA, Martin KA, Quinton R, Mericq V, Merino PM, Gusella JF, Crowley WF Jr, Pitteloud N, Hall JE. 2011. Expanding the phenotype and genotype of female GnRH deficiency. J Clin Endocrinol Metab 96(3):E566-76.]
  26. Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, Nayak-Young S, Swyer AA, Quinton R, Hall JE, Gusella JF, Seminara SB, Crowley WF Jr, Pitteloud N. 2010. Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci USA 107(34);15140-15144. [Abstract Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, Nayak-Young S, Swyer AA, Quinton R, Hall JE, Gusella JF, Seminara SB, Crowley WF Jr, Pitteloud N. 2010. Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci USA 107(34);15140-15144.]
  27. Gianetti E, Tusset C, Noel SD, Au MG, Dwyer AA, Hughes VA, Abreu AP, Carroll J, Trarbach E, Silveira LF, Costa EM, de Mendonca BB, de Castro M, Lofrano A, Hall JE, Bolu E, Ozata  M, Quinton R, Amory JK, Stewart SE, Arlt W, Cole TR, Crowley WF, Kaiser UB, Latronico AC, Seminara SB. 2010. TAC3/TACR3 mutations reveal preferential activation of gonadotropin hormone releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. J Clin Endocrinol Metab 95(6):2857-2867. [Abstract Gianetti E, Tusset C, Noel SD, Au MG, Dwyer AA, Hughes VA, Abreu AP, Carroll J, Trarbach E, Silveira LF, Costa EM, de Mendonca BB, de Castro M, Lofrano A, Hall JE, Bolu E, Ozata  M, Quinton R, Amory JK, Stewart SE, Arlt W, Cole TR, Crowley WF, Kaiser UB, Latronico AC, Seminara SB. 2010. TAC3/TACR3 mutations reveal preferential activation of gonadotropin hormone releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. J Clin Endocrinol Metab 95(6):2857-2867.]
  28. Shaw ND, Histed SN, Srouji SS, Yang, J, Lee H, Hall JE. 2010. Estrogen negative feedback: evidence for a direct pituitary effect in women. J Clin Endocrinol Metab 95(4):1955-1961. [Abstract Shaw ND, Histed SN, Srouji SS, Yang, J, Lee H, Hall JE. 2010. Estrogen negative feedback: evidence for a direct pituitary effect in women. J Clin Endocrinol Metab 95(4):1955-1961.]
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